Vertex Drug Could Be “Man on the Moon” for Cystic Fibrosis Therapy, Says Researcher Bonnie Ramsey

8/7/09Follow @xconomy

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actually for three to five years before the gene was identified, there had been seminal work in understanding that it was a defect in ion transport, or salt transport, in epithelial lining cells. There had been articles in the New England Journal in terms of what caused the salty sweat in patients. That was because of this abnormal salt transport patients had.

Then when the gene was identified in 1989, they were able to move forward at exponential speed and identify what the faulty protein was, where it was located, and how the protein functions normally, and what was wrong with the dysfunctional protein.

X: Despite all this fundamental, underlying biology that we now know, it hasn’t really added up…

BR: It hasn’t had any impact on treatment. That’s right. We now clearly understand what the cystic fibrosis protein does, and what goes wrong. We also know there are these different classes of mutations. There’s a type 1 mutation, where the protein isn’t transcribed. Those are called premature stop mutations. That’s the type of mutation that [South Plainfield, NJ-based] PTC Therapeutics is working on. Then there are other mutations, the most common type is the Delta F508. That’s one where the nascent protein is made, but doesn’t get properly trafficked up to the surface of the cell. Then there’s the type 3, the G551D, which is what the Vertex product is working on. That’s where the protein gets to the surface, but it’s not properly activated. So it gets up there to the surface of the cell, but it can’t properly transport the salt. Then there’s actually types 4 and 5, in which there are abnormalities in the channel itself.

But I think what’s really key now is that for the first time we’re really looking at therapies that could correct the protein. So, you ask, why has lifespan doubled when we haven’t been treating the underlying defect?

I think it’s because we started looking very systematically at the management of the illness and asked, “How can we improve the management and the secondary consequences of an abnormal protein?” The secondary consequences are where you get this dry, thickened mucus that blocks multiple organs, like the pancreas, the lung, the liver, the testes. You try to figure out better ways to hydrate and mobilize secretions. We know in the lungs that this mucus leads to secondary infections, and so we asked, ‘How do you better treat those infections?’

Over those 20 years, we’ve been much more aggressive in general treatment. It used to be you didn’t treat kids at all until they were almost school-age. I’m talking about the lung disease. They started coughing up sputum. We realized by that point, a lot of lung damage had already occurred. I think it’s an approach very similar to what happened in pediatric oncology, where they started getting very aggressive upfront, rather than waiting until they relapsed, and were already too sick. Now we’re very aggressive about starting nutritional supplements and enzyme therapy in the newborn period, because we now have newborn screening that’s nationwide. Children are never allowed to get malnourished … Next Page »

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  • http://xconomy.com Marla

    Praise God! Keep the research going, my two girls need it!

  • http://www.donnacodelljuiceplus.com Donna

    My daughter is going to be 38 years old in January. I’ve been involved with CF for a long time! The research and trials are exciting, but in the mean time we have to keep our children as healthy as possible. I am involved with a product called Juice Plus+. Nutrition is so important for our health. The studies show that Juice Plus+ can give you the fruits and vegetables that you are missing in your diet. JP+ increases blood antioxidant levels in 28 days, it strengthens the immune system, repairs damaged DNA and protects DNA from free radical damage. We need to get our CF patients on this whole food based nutrition. One of my colleagues daughter’s pulmonary function went from 25% to 40% after being on JP+ orchard/garden and Vineyard blend. Look at my web site and see all the research and science that have been peer reviewed and published in medical journals. See what the experts are saying. For more information please contact me at anglequeen1@aol.com or call me at 847/680-4860. Good health to all!

  • Kevin Chow

    Nice article. It would be worthwhile pointing out that there is another potential therapeutic for aiding mucus clearance in CF patients being developed by Gilead’s pulmonary R&D group based right here in Seattle. It’s a collaborative effort with Parion Sciences of Durham, NC and currently it is in Phase 1 clinical studies.

  • http://ceci_sesacris@hotmail.com cecilia

    yo tengo tres hijos con fibrosis quistica, y mi duda es , si ya estamos cerca de algo mas prometedor para los homocigotos deltaf508.gracias

  • BRANDY HARPER

    I SIT HERAR CRYING THANKING THE GREAT SPIRIT,I HAVE 2 CHILDREN WITH CF AND THIS WONDERFULL.COUNT YOUR BLESSINGS PPL

  • Andrew Kolodziej

    This is truly walking on the moon. The CF foundation has been the NASA for this endeavor–funding research to improve antibiotic treatment, creating the development network to test therapies and spread best practices has had a huge impact, bringing all CF families together to share experience and knowledge, and funding companies like Vertex, Aurora, Inspire and EPIX to find cures to the underlying problem. There is good reason to hope that there will be a cure or at least a significant ameliorative soon.

  • Brenda Friend

    I want to thank Dr. Ramsey, the CF Foundation and everyone involved in this drug research. Dr. Ramsey was my daughter’s physician 26 years ago. It’s great to have her working diligently on saving our children/adults, and being so encouraging to the rest of us! Bonnie, your Kodiak baby girl says hello and is doing well. She’s teaching 2nd grade and trying to stay healthy. We appreciate all of your hard work and know you’ll get this kicked for us!

  • Luis Carrillo

    My son has CF, he is 8 years old, at the begining, we did not know what this disease was, its been very hard for us to accept that his life is threaten. Its been a new life since two months ago, we hope for the cure or more medical treatments soon, I’m sure doctors are working hard to find it. And, not only 30,000 patients in the US are waiting but all of their families as well. Thank very much.

  • Alfred arayza

    i am a kid with cf.I am 15 and hearing about the cure makes me very happy cuz i want to be normal not haveing to take pills all the time I HOPE THEY FIND A CURE.

  • jill marchione

    My son has the G551D Mutation, we are currently waiting to start the trial at CHOP.I cant tell you how excited we are. for years we have watched promising treatments turn out to be nothing. But we have real hope with VX770!

  • Brandon B

    I have CF. I am a 25 yr old college senior, kinda old to still be a college student, but trips to the hospital makes it hard to continue the course. I live in Houston is there research being done around here? I am all for donating my time to help the others who have CF, because I know we are all sick and tired of taking all those pills and breathing treatments!!!
    Note to all the CF fishermen: Good way to tell if your fishing spot has fish that are feeding, take a good couple of deep coughs spit the mucus in the lake. If the mucus is gone before you can cough up more, throw in, you are going to catch alot of fish!

  • http://CFF.org Jennifer Dean

    I am a CF parnet, unfortunetly we lost our daughter at the age of 2 who also was battling CF. I am still very active in fundraising and staying up on all of the accomplishments that have been made. Vertex, I know this is a great leap in the CF community and I comand all that this will work for and I suppoort all and everyone that is out there fighting. I am behind all of you and best of luck to all. Hope and thoughts are going out to all.

    God Bless !

  • http://CFF.org Jennifer Dean

    I am a CF parent and unfortunetly we lost our daughter to CF at the age of 2. I am still very active in the fundraising and stay up to date on all of the accomplishments that have been made. I hope and I know deep down that Vertex will be the CURE. I command all of you that are affected by this diesase and all of the parents, freinds, and families that stand behind and supprt all of this research.

    God Bless to all !

  • Jan Johnson

    My niece has CF and after a lung transplant is not doing well. She is 22 years old and in ICU on a breathing machine. Depending on which mutation she has is there any way she could benefit from the clinical trials? This is a last resort so please let me know if there is any hope for her.

  • SM

    I’m 43 and I have the delta F508 mutation. My lung function has declined a LOT in the past 10 years. These drugs are very promising and I am hopeful that it will improve my quality of life. Keep up the good work!